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ORPHA:83629

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

low confidenceDisorder

Also known as: H-SMD · Hypomyelination-spondyloepimetaphyseal dysplasia syndrome · Leukoencephalopathy-SEMD syndrome · Leukoencephalopathy-metaphyseal chondrodysplasia syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,753

Trials

0

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

AIFM1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal . Patients present in infancy with absent or delayed ability to walk independently, slowly motor deterioration, spasticity, , proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly features, among others. Mode of inheritance is X-linked .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

hypomyelination-spondyloepimetaphyseal dysplasia syndrome · leukoencephalopathy-SEMD syndrome · leukoencephalopathy-metaphyseal chondrodysplasia syndrome · spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — AIFM1

  2. LiteraturePresent

    2,753 matched papers (1,885 in last 10 years) Source

  3. Phenotype characterisedPresent

    72 HPO annotations (e.g. Spastic paraplegia; Gait disturbance; Cerebral atrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (AIFM1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

72

Associated phenotypes · MONDO:0010275

  • Spastic paraplegia
  • Gait disturbance
  • Cerebral atrophy
  • Abnormal brainstem MRI signal intensity
  • Tip-toe gait

Showing 5 of 72 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,753

2,753 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,753 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,885 in the last 10 years · low confidence

Phrase hits: 305 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Liu Y7 papers · 2026

    Gastroenterology Department, Peking University People's Hospital, Beijing 100044, China.

    Papers in Europe PMC
  2. 02
    Zhang Y7 papers · 2026

    Shanxi Province Hospital of Traditional Chinese Medicine, Shanxi Provincial Institute of Traditional Chinese Medicine, Taiyuan 030012, China.

    Papers in Europe PMC
  3. 03
    Liu J6 papers · 2025

    Department of Public Health and Preventive Medicine, School of Medicine, Jinan University, No. 601 Huangpu Road West, Guangzhou 510632, China.

    Papers in Europe PMC
  4. 04
    Wang Y6 papers · 2023

    Department of Respiratory Medicine, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.

    Papers in Europe PMC
  5. 05
    Zhang J6 papers · 2026

    Gansu Province Clinical Research Center of Integrative Anaesthesiology, Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu, China.

    Papers in Europe PMC
  6. 06
    Chen X5 papers · 2026

    Department of Critical Care, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

    Papers in Europe PMC
  7. 07
    Li S5 papers · 2026

    Department of Anesthesiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.

    Papers in Europe PMC
  8. 08
    Li Y5 papers · 2026

    The Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, China.

    Papers in Europe PMC
  9. 09
    Liu X5 papers · 2026

    Department of Anesthesiology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China.

    Papers in Europe PMC
  10. 10
    Wang X5 papers · 2025

    Joint Surgery, Hong-Hui Hospital, Xi'an Jiaotong University College of Medicine, Xi'an, 710054, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

Broader category spondyloepimetaphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: spondyloepimetaphyseal dysplasia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome" OR "H-SMD" OR "Hypomyelination-spondyloepimetaphyseal dysplasia syndrome" OR "Leukoencephalopathy-SEMD syndrome" OR "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome" OR "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive") OR (MESH:"Skeletal dysplasia coarse facies mental retardation" OR MESH:"[OBSOLETE] Leukoencephalopathy With Metaphyseal Chondrodysplasia") OR ("AIFM1" OR "AIFM1 syndrome" OR "AIFM1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Skeletal dysplasia coarse facies mental retardation; [OBSOLETE] Leukoencephalopathy With Metaphyseal Chondrodysplasia

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome" OR "H-SMD" OR "Hypomyelination-spondyloepimetaphyseal dysplasia syndrome" OR "Leukoencephalopathy-SEMD syndrome" OR "Leukoencephalopathy-metaphyseal chondrodysplasia syndrome" OR "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive" OR "Skeletal dysplasia coarse facies mental retardation" OR "[OBSOLETE] Leukoencephalopathy With Metaphyseal Chondrodysplasia"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"spondyloepimetaphyseal dysplasia"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2753) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:41:48.927Z